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    • 5. 发明申请
    • Mutations in capillary morphogenesis gene-2 (CMG-2) and use thereof
    • 毛细血管形态发生基因-2(CMG-2)的突变及其用途
    • US20050221336A1
    • 2005-10-06
    • US10939321
    • 2004-09-09
    • John MartignettiOonagh Dowling
    • John MartignettiOonagh Dowling
    • C12Q1/68G01N33/68
    • G01N33/6893G01N2800/10G01N2800/102G01N2800/108
    • Mutations and polymorphisms in a particular gene, the capillary morphogenesis gene-2 (CMG-2) have been identified. The mutations have been associated with infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), as well as conditions associated with these disorders. Described herein are variant CMG-2 nucleic acids and variant CMG-2 polypeptides; cells comprising such variant CMG-2 nucleic acids and/or expressing variant CMG-2 polypeptides; and methods of diagnosing and treating such disorders and conditions. Variant CMG-2 proteins include those comprising one or more of E220X, G105D, L329, P257insC, 1189T, A357P, and A322S. Variant CMG-2 nucleic acids include those encoding these mutant CMG-2 proteins, as well as silent mutations or polymorphisms.
    • 已经鉴定了特定基因的突变和多态性,毛细血管形态发生基因-2(CMG-2)。 这些突变已经与婴儿系统性透明细胞病(ISH)和青少年透明纤维瘤病(JHF)以及与这些疾病相关的病症相关。 本文描述的是变体CMG-2核酸和变体CMG-2多肽; 包含这种变体CMG-2核酸和/或表达变体CMG-2多肽的细胞; 以及诊断和治疗这些疾病和病症的方法。 变体CMG-2蛋白包括包含E220X,G105D,L329,P257insC,1189T,A357P和A322S中的一种或多种的那些。 变体CMG-2核酸包括编码这些突变型CMG-2蛋白的那些,以及沉默突变或多态性。
    • 6. 发明申请
    • MUTATIONS IN CAPILLARY MORPHOGENESIS GENE-2 (CMG-2) AND USE THEREOF
    • 毛细血管生成基因-2(CMG-2)中的突变及其用途
    • US20090317823A1
    • 2009-12-24
    • US12537865
    • 2009-08-07
    • John MartignettiOonagh Dowling
    • John MartignettiOonagh Dowling
    • C12Q1/68
    • G01N33/6893G01N2800/10G01N2800/102G01N2800/108
    • Mutations and polymorphisms in a particular gene, the capillary morphogenesis gene-2 (CMG-2) have been identified. The mutations have been associated with infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), as well as conditions associated with these disorders. Described herein are variant CMG-2 nucleic acids and variant CMG-2 polypeptides; cells comprising such variant CMG-2 nucleic acids and/or expressing variant CMG-2 polypeptides; and methods of diagnosing and treating such disorders and conditions. Variant CMG-2 proteins include those comprising one or more of E220X, G105D, L329, P257insC, I189T, A357P, and A322S. Variant CMG-2 nucleic acids include those encoding these mutant CMG-2 proteins, as well as silent mutations or polymorphisms.
    • 已经鉴定了特定基因的突变和多态性,毛细血管形态发生基因-2(CMG-2)。 这些突变已经与婴儿系统性透明细胞病(ISH)和青少年透明纤维瘤病(JHF)以及与这些疾病相关的病症相关。 本文描述的是变体CMG-2核酸和变体CMG-2多肽; 包含这种变体CMG-2核酸和/或表达变体CMG-2多肽的细胞; 以及诊断和治疗这些疾病和病症的方法。 变体CMG-2蛋白包括包含E220X,G105D,L329,P257insC,I189T,A357P和A322S中的一种或多种的那些。 变体CMG-2核酸包括编码这些突变型CMG-2蛋白的那些,以及沉默突变或多态性。